ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002280920 SCV002569094 pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2 2021-11-05 criteria provided, single submitter clinical testing

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